A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738904



Internal ID9973245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108900264..108901258hg38UCSC Ensembl
Outerchr9:111662544..111663538hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38995
hg19995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746515, essv6935451, essv6967895, essv6879200, essv6905673, essv6752240, essv6845622, essv6667997, essv6976311, essv6952770, essv6771633, essv6716330, essv6740695, essv6743713, essv6695376, essv6939893, essv6737578, essv6894274, essv6866592, essv6779028, essv6915764, essv6876342, essv6965064, essv6783078, essv6709149, essv6887673, essv6948614, essv6970304, essv6755200, essv6958493, essv6681183, essv6727922, essv6684654, essv6900322, essv6768087, essv6765513, essv6842021, essv6856514, essv6882018, essv6734902, essv6884806, essv6791401, essv6931363, essv6802388, essv6935636, essv6927549, essv6815088, essv6831797, essv6904513, essv6873377, essv6787308, essv6811913, essv6919704, essv6819172, essv6735231, essv6760659, essv6895288, essv6923869, essv6819171, essv6768179, essv6775308, essv6695077, essv6897335, essv6834513
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM078, SSM043, SSM089, SSM064, SSM025, SSM020, SSM016, SSM057, SSM001, SSM024, SSM067, SSM094, SSM050, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM069, SSM021, SSM002, SSM037, SSM063, SSM087, SSM046, SSM019, SSM096, SSM052, SSM068, SSM004, SSM026, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM070
Known GenesIKBKAP
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2738904
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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